Variant report

Variant	rs57981503
Chromosome Location	chr19:21184746-21184747
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10406359	1.00[AMR][1000 genomes]
rs10418266	1.00[AMR][1000 genomes]
rs17447963	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57505697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57601660	1.00[AMR][1000 genomes]
rs58002329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59609198	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60170851	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60293432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61179921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7246695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247670	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248199	1.00[AMR][1000 genomes]
rs7259985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531819	0.83[AFR][1000 genomes]
rs73531882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531886	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533603	1.00[AMR][1000 genomes]
rs73533607	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540426	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542629	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546304	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546306	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8104371	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21183200-21186400	Weak transcription	Colon Smooth Muscle	Colon
2	chr19:21183400-21193800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21183400-21196000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:21183800-21188600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:21183800-21188800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:21183800-21189000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:21183800-21190800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:21183800-21191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:21183800-21194200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:21184000-21188600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:21184000-21191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:21184000-21198000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:21184400-21184800	Enhancers	Dnd41	blood
14	chr19:21184400-21196800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:21184600-21186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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